ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1])

dbSNP: rs267608404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001430809 SCV001633554 likely benign Severe neonatal-onset encephalopathy with microcephaly 2020-06-05 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV004527355 SCV005040718 benign Rett syndrome 2024-04-22 criteria provided, single submitter curation This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria. Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 3.0, this variant is classified as benign. At least the following criteria are met: The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). The allele frequency of this variant in gnomAD (Max) is between 0.008% and 0.03% , 3 hemizygotes. (BS1).
RettBASE RCV000132988 SCV000187972 not provided not provided no assertion provided not provided

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